Submissions for variant NM_000169.3(GLA):c.714T>C (p.Ser238=)

gnomAD frequency: 0.00003  dbSNP: rs397515872

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035309	SCV000058957	likely benign	not specified	2016-02-12	criteria provided, single submitter	clinical testing	p.Ser238Ser in exon 5 of GLA: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1/87762 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP87762).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001089401	SCV000622189	likely benign	Fabry disease	2024-01-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000735194	SCV000863398	uncertain significance	not provided	2018-09-18	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001089401	SCV001343096	likely benign	Fabry disease	2019-06-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000735194	SCV001835140	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001089401	SCV002054807	likely benign	Fabry disease	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362616	SCV002662331	likely benign	Cardiovascular phenotype	2020-03-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149615	SCV003838829	likely benign	Cardiomyopathy	2023-03-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003924901	SCV004741184	likely benign	GLA-related disorder	2019-09-17	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).